A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995150



Internal ID6731100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78500499..78512984hg38UCSC Ensembl
Outerchr17:76496581..76509066hg19UCSC Ensembl
Outerchr17:74008176..74020661hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3812486
hg1912486
hg1812486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564102
SamplesHuRef
Known GenesDNAH17, DNAH17-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995150
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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